Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.E197_E198delFs

PLIN1

160 papers

RefSeq Summary

The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-de...

Pfam Domains

Perilipinaa 13–414UCSCPerilipin family

Gene Aliases

HGNC Name

perilipin 1

HGNC Previous Name

perilipin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002666.5
p.E197_E198delFs
c.589_592del4
Surrounding Variants
1 paper
NM_002666.5
p.E198_S199insFs
c.594_595insC
1 paper
NM_002666.5
p.K196M
c.587A>T
5 papers
NM_002666.5
p.P194A
c.580C>G
1 paper
NM_002666.5
p.V187_P193delFs
c.560_578del19
1 paper
NM_002666.5
p.L191R
c.572T>G
1 paper
NM_002666.5
p.A180V
c.539C>T
1 paper
NM_002666.5
p.A177V
c.530C>T
1 paper
NM_002666.5
p.G175V
c.524G>T
3 papers
NM_002666.5
p.R171*
c.511C>T
1 paper
NM_002666.5
p.R168*
c.502C>T
1 paper
NM_002666.5
p.A164_A165insFs
c.492_493ins4
1 paper
NM_002666.5
p.R158delFs
c.474delT
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